Practical Genetic Counselling

Practical Genetic Counselling, Third Edition presents the progress in the field of medical genetics. This book covers the broad area of congenital malformation syndromes and dysmorphology. Organized into three parts encompassing 26 chapters, this edition begins with an overview of the main steps in the process of genetic counselling. This text then examines how a Mendelian inheritance may be established by a combination of clinical diagnosis. Other chapters consider the risks in specific groups of chromosomal disorders. This book discusses as well the molecular genetic approaches, which are making an impact in the treatment of major disorders by providing pure and comparatively inexpensive gene products. The final chapter deals with how genetic counselling is contributing to reducing the general burden of genetic disease in the population. This book is a valuable resource for geneticists, neurologists, clinicians, pediatricians, and obstetricians. Readers who are interested to know about genetic disorders will also find this book useful.

Part I General Aspects of Genetic Counseling

1. Genetic Counseling: An Introduction

2. Genetic Counseling in Mendelian Disorders

3. Genetic Counseling in Non-Mendelian Disorders

4. Chromosomal Abnormalities

5. The Molecular Approach to Genetic Disorders

6. Dysmorphology and Genetic Syndromes

7. Carrier Detection

8. Prenatal Diagnosis

9. Special Problems in Genetic Counseling

10. The Genetic Counseling Clinic

Part II Specific Organ Systems

11. Neuromuscular Disease

12. Central Nervous System and Psychiatric Disorders

13. Disorders of Bone and Connective Tissue

14. Oral and Craniofacial Disorders

15. The Skin

16. The Eye

17. Deafness

18. Cardiovascular Disease

19. The Gastrointestinal Tract

20. Renal Disease

21. Endocrine Disorders

22. Inborn Errors of Metabolism

23. Blood

24. Genetic Risks in Cancer

25. Environmental Hazards

Part III Conclusion

26. Genetic Counseling and Society

Appendix Useful Information in Connection with Genetic Counseling

Index